ClinVar Miner

List of variants reported as likely benign for hereditary spastic paraplegia 11 by Genome Diagnostics Laboratory, University Medical Center Utrecht

Included ClinVar conditions (5):

Amyotrophic lateral sclerosis type 5; Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5; Hereditary spastic paraplegia 11; Charcot-Marie-Tooth disease axonal type 2X
Hereditary spastic paraplegia 11
Hereditary spastic paraplegia 11; Charcot-Marie-Tooth disease axonal type 2X
Hereditary spastic paraplegia 11; Charcot-Marie-Tooth disease axonal type 2X; Juvenile amyotrophic lateral sclerosis

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg)	rs76116949	0.01253
NM_025137.4(SPG11):c.257+13G>A	rs201936649	0.00032
NM_025137.4(SPG11):c.395G>A (p.Ser132Asn)	rs145132275	0.00026
NM_025137.4(SPG11):c.6477+13del	rs574960359

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